Canonical Allele Identifier: CA1685230568

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987445_5987446delinsTG , CM000669.2:g.5987445_5987446delinsTG	GRCh38
NC_000007.13:g.6027076_6027077delinsTG , CM000669.1:g.6027076_6027077delinsTG	GRCh37
NC_000007.12:g.5993602_5993603delinsTG	NCBI36
NG_008466.1:g.26661_26662delinsCA , LRG_161:g.26661_26662delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*715_*716delinsCA	ENSP00000514615.2:n.*715_*716delinsCA
ENST00000699840.2:c.1316_1317delinsCA	ENSP00000514638.2:p.Pro439=
ENST00000699930.2:c.1211_1212delinsCA	ENSP00000514695.2:p.Pro404=
ENST00000406569.8:c.1319_1320delinsCA	ENSP00000514464.1:p.Pro440=
ENST00000644110.2:c.*913_*914delinsCA	ENSP00000496392.2:n.*913_*914delinsCA
ENST00000699752.1:c.1163_1164delinsCA	ENSP00000514561.1:p.Pro388=
ENST00000699753.1:c.*740_*741delinsCA	ENSP00000514562.1:n.*740_*741delinsCA
ENST00000699754.1:c.1121_1122delinsCA	ENSP00000514563.1:p.Pro374=
ENST00000699755.1:c.*718_*719delinsCA	ENSP00000514564.1:n.*718_*719delinsCA
ENST00000699756.1:c.*906_*907delinsCA	ENSP00000514565.1:n.*906_*907delinsCA
ENST00000699757.1:c.*576_*577delinsCA	ENSP00000514566.1:n.*576_*577delinsCA
ENST00000699758.1:c.*576_*577delinsCA	ENSP00000514567.1:n.*576_*577delinsCA
ENST00000699759.1:n.2173_2174delinsCA
ENST00000699760.1:c.1001_1002delinsCA	ENSP00000514568.1:p.Pro334=
ENST00000699761.1:c.914_915delinsCA	ENSP00000514569.1:p.Pro305=
ENST00000699762.1:c.746_747delinsCA	ENSP00000514570.1:p.Pro249=
ENST00000699763.1:c.*409_*410delinsCA	ENSP00000514571.1:n.*409_*410delinsCA
ENST00000699764.1:c.1319_1320delinsCA	ENSP00000514572.1:p.Pro440=
ENST00000699765.1:c.*415_*416delinsCA	ENSP00000514573.1:n.*415_*416delinsCA
ENST00000699766.1:c.1319_1320delinsCA	ENSP00000514574.1:p.Pro440=
ENST00000699767.1:c.1319_1320delinsCA	ENSP00000514575.1:p.Pro440=
ENST00000699768.1:c.1319_1320delinsCA	ENSP00000514576.1:p.Pro440=
ENST00000699811.1:c.914_915delinsCA	ENSP00000514614.1:p.Pro305=
ENST00000699813.1:n.1432_1433delinsCA
ENST00000699814.1:c.942_943delinsCA
ENST00000699815.1:c.*850_*851delinsCA	ENSP00000514616.1:n.*850_*851delinsCA
ENST00000699816.1:c.*209_*210delinsCA	ENSP00000514617.1:n.*209_*210delinsCA
ENST00000699817.1:c.*913_*914delinsCA	ENSP00000514618.1:n.*913_*914delinsCA
ENST00000699818.1:c.914_915delinsCA	ENSP00000514619.1:p.Pro305=
ENST00000699819.1:c.*476_*477delinsCA	ENSP00000514620.1:n.*476_*477delinsCA
ENST00000699820.1:c.1144+2354_1144+2355delinsCA	ENSP00000514621.1:n.1144+2354_1144+2355delinsCA
ENST00000699821.1:c.914_915delinsCA	ENSP00000514622.1:p.Pro305=
ENST00000699822.1:c.*771_*772delinsCA	ENSP00000514623.1:n.*771_*772delinsCA
ENST00000699823.1:c.914_915delinsCA	ENSP00000514624.1:p.Pro305=
ENST00000699824.1:c.*822_*823delinsCA	ENSP00000514625.1:n.*822_*823delinsCA
ENST00000699825.1:c.758_759delinsCA	ENSP00000514626.1:p.Pro253=
ENST00000699826.1:c.*718_*719delinsCA	ENSP00000514627.1:n.*718_*719delinsCA
ENST00000699827.1:c.1151_1152delinsCA	ENSP00000514628.1:p.Pro384=
ENST00000699828.1:c.*409_*410delinsCA	ENSP00000514629.1:n.*409_*410delinsCA
ENST00000699833.1:n.3091_3092delinsCA
ENST00000699837.1:c.914_915delinsCA	ENSP00000514635.1:p.Pro305=
ENST00000699838.1:c.*1219_*1220delinsCA	ENSP00000514636.1:n.*1219_*1220delinsCA
ENST00000699839.1:c.1505_1506delinsCA	ENSP00000514637.1:p.Pro502=
ENST00000699916.1:c.*576_*577delinsCA	ENSP00000514684.1:n.*576_*577delinsCA
ENST00000699917.1:c.*768_*769delinsCA	ENSP00000514685.1:n.*768_*769delinsCA
ENST00000699918.1:c.*820_*821delinsCA	ENSP00000514686.1:n.*820_*821delinsCA
ENST00000699919.1:c.*906_*907delinsCA	ENSP00000514687.1:n.*906_*907delinsCA
ENST00000699920.1:c.*955_*956delinsCA	ENSP00000514688.1:n.*955_*956delinsCA
ENST00000699928.1:c.989-4455_989-4454delinsCA	ENSP00000514693.1:n.989-4455_989-4454delinsCA
ENST00000699929.1:c.*620_*621delinsCA	ENSP00000514694.1:n.*620_*621delinsCA
ENST00000699930.1:c.1211_1212delinsCA	ENSP00000514695.1:p.Pro404=
ENST00000699931.1:n.2747_2748delinsCA
ENST00000699951.1:c.*415_*416delinsCA	ENSP00000514706.1:n.*415_*416delinsCA
ENST00000699952.1:c.803+9880_803+9881delinsCA	ENSP00000514707.1:n.803+9880_803+9881delinsCA
ENST00000699953.1:c.*426_*427delinsCA	ENSP00000514708.1:n.*426_*427delinsCA
ENST00000699954.1:c.*620_*621delinsCA	ENSP00000514709.1:n.*620_*621delinsCA
ENST00000265849.12:c.1319_1320delinsCA MANE Select	ENSP00000265849.7:p.Pro440=
ENST00000642292.1:c.914_915delinsCA	ENSP00000495524.1:p.Pro305=
ENST00000642456.1:c.914_915delinsCA	ENSP00000493814.1:p.Pro305=
ENST00000643595.1:c.*718_*719delinsCA	ENSP00000494497.1:n.*718_*719delinsCA
ENST00000644110.1:c.1001_1002delinsCA	ENSP00000496392.1:p.Pro334=
ENST00000265849.11:c.1319_1320delinsCA	ENSP00000265849.7:p.Pro440=
ENST00000382321.5:c.804-4455_804-4454delinsCA	ENSP00000371758.4:n.804-4455_804-4454delinsCA
ENST00000406569.7:n.1319_1320delinsCA
ENST00000441476.6:c.1001_1002delinsCA	ENSP00000392843.2:p.Pro334=
ENST00000469652.1:n.63-4541_63-4540delinsCA
NM_000535.5:c.1319_1320delinsCA , LRG_161t1:c.1319_1320delinsCA	NP_000526.1:p.Pro440=
NR_003085.2:n.1401_1402delinsCA
XM_006715742.2:c.1313_1314delinsCA	XP_006715805.1:p.Pro438=
XM_006715744.2:c.386_387delinsCA	XP_006715807.1:p.Pro129=
XM_011515427.1:c.1364_1365delinsCA	XP_011513729.1:p.Pro455=
XM_011515428.1:c.1208_1209delinsCA	XP_011513730.1:p.Pro403=
XM_011515429.1:c.1001_1002delinsCA	XP_011513731.1:p.Pro334=
XM_011515430.1:c.1001_1002delinsCA	XP_011513732.1:p.Pro334=
NM_000535.6:c.1319_1320delinsCA	NP_000526.2:p.Pro440=
NM_001322003.1:c.914_915delinsCA	NP_001308932.1:p.Pro305=
NM_001322004.1:c.914_915delinsCA	NP_001308933.1:p.Pro305=
NM_001322005.1:c.914_915delinsCA	NP_001308934.1:p.Pro305=
NM_001322006.1:c.1163_1164delinsCA	NP_001308935.1:p.Pro388=
NM_001322007.1:c.1001_1002delinsCA	NP_001308936.1:p.Pro334=
NM_001322008.1:c.1001_1002delinsCA	NP_001308937.1:p.Pro334=
NM_001322009.1:c.914_915delinsCA	NP_001308938.1:p.Pro305=
NM_001322010.1:c.758_759delinsCA	NP_001308939.1:p.Pro253=
NM_001322011.1:c.386_387delinsCA	NP_001308940.1:p.Pro129=
NM_001322012.1:c.386_387delinsCA	NP_001308941.1:p.Pro129=
NM_001322013.1:c.746_747delinsCA	NP_001308942.1:p.Pro249=
NM_001322014.1:c.1319_1320delinsCA	NP_001308943.1:p.Pro440=
NM_001322015.1:c.1010_1011delinsCA	NP_001308944.1:p.Pro337=
NR_136154.1:n.1406_1407delinsCA
XM_006715744.4:c.386_387delinsCA	XP_006715807.1:p.Pro129=
XM_017012342.2:c.386_387delinsCA	XP_016867831.1:p.Pro129=
XM_024446800.1:c.758_759delinsCA	XP_024302568.1:p.Pro253=
NM_000535.7:c.1319_1320delinsCA MANE Select	NP_000526.2:p.Pro440=
NM_001322003.2:c.914_915delinsCA	NP_001308932.1:p.Pro305=
NM_001322004.2:c.914_915delinsCA	NP_001308933.1:p.Pro305=
NM_001322005.2:c.914_915delinsCA	NP_001308934.1:p.Pro305=
NM_001322006.2:c.1163_1164delinsCA	NP_001308935.1:p.Pro388=
NM_001322008.2:c.1001_1002delinsCA	NP_001308937.1:p.Pro334=
NM_001322009.2:c.914_915delinsCA	NP_001308938.1:p.Pro305=
NM_001322010.2:c.758_759delinsCA	NP_001308939.1:p.Pro253=
NM_001322011.2:c.386_387delinsCA	NP_001308940.1:p.Pro129=
NM_001322012.2:c.386_387delinsCA	NP_001308941.1:p.Pro129=
NM_001322013.2:c.746_747delinsCA	NP_001308942.1:p.Pro249=
NM_001322014.2:c.1319_1320delinsCA	NP_001308943.1:p.Pro440=
NM_001322015.2:c.1010_1011delinsCA	NP_001308944.1:p.Pro337=
NM_001322007.2:c.1001_1002delinsCA	NP_001308936.1:p.Pro334=